Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
27 Cards in this Set
- Front
- Back
|
Trisomy 13 (Patau's syndrome)
-gene? -mutation? |
-chromosome 13
-aneuploidy (extra 13); often maternal nondisjunction |
|
|
Trisomy 13
-clinical features? -onset? |
-mental retardation, cleft lip/palate, rocker bottom feet, congenital heart, liver, brain diseases
-high spontaneous abortion; death in infancy |
|
|
Trisomy 18 (Edwards syndrome)
-gene? -mutation? |
-chromosome 18
-aneuploidy (extra 18); mostly from maternal nondisjunction |
|
|
Trisomy 18
-clinical features? -onset? |
-growth retardation, dysmorphic features, rocker bottom feet, small birthweight
-death in infancy, high spontaneous abortion rate |
|
|
Trisomy 21 (Down's syndrome)
-gene? -mutation? |
-chromosome 21
-aneuploidy (extra 21); mostly from maternal nondisjunction in meiosis I |
|
|
Trisomy 21
-clinical features? |
-mod-severe mental retardation, flat occiput, furrowed tongue, simian crease, short fingers and toes, heart defects, inc respiratory infection and leukemia, male often sterile, early onset alzheimers
|
|
|
XXY (Klinefelter syndrome)
-gene? -mutation? |
-sex chromosome
-anueploidy (extra X); nondisjunction |
|
|
XXY
-clinical features? |
-male phenotype, small testes, low levels testosterone, sterile bc seminiferous tubules atrophy, tall, long arms/legs, sparse body hair, breast development, learning disabilty
|
|
|
XYY
-gene? -mutation? |
-sex chromosome
-aneuploidy; extra Y due to paternal nondisjunction in meiosis II |
|
|
XYY
-clinical features? |
-male phenotype, fertile, learning disabilities, behavioral problems, tall
|
|
|
XXX
-gene? -mutation? |
-sex chromosome
-aneuploidy; extra X due to nondisjunction |
|
|
XXX
-clinical features? |
-female phenotype, fertile, no major congenital abnormalities, slight cognitive impairment, more X, more disabilities
|
|
|
45 X (Turner syndrome)
-gene? -mutation? |
-sex chromosome
-aneuploidy; X monsomy due to nondisjunciton or loss of X/Y |
|
|
45 X
-clinical features? |
-female with short stature, ovarian failure, primary amenorrhea, infertility, renal anomalies
|
|
|
Osteogenesis imperfecta: I
-gene? -gene product? -mutation? |
-COL1A1
-collagen type 1 -premature stop codons |
|
|
Osteogenesis imperfecta: I
-inheritance? -clinical features? |
-AD
-mild, blue sclera, shorter stature, hearing loss |
|
|
Osteogenesis imperfecta II-IV
-gene product? -mutation? -inheritance? |
-collagen type I
-Gly sub altering collagen structure -AD; III can be AR |
|
|
Osteogenesis imperfecta clinical features
-type II? -type III? -type IV? |
-lethal, multiple fractures of ribs, long bone compression, dark blue sclera
-thin ribs, bones with fracture, short -variable short stature, mild/mod bone deformity |
|
|
cranyosynostosis syndromes (Pfeiffer, crouzon, and apert)
-gene? -gene product? |
-FGFR1, FGFR2, FGFR3
-fibroblast growth factor receptor type 1,2,3 |
|
|
cranyosynostosis
-inheritance? -clinical features? |
-de novo mutation, or AD
-premature fusion of cranial sutures, intracranial HTN, abnormal dev. of skeleton; pfeiffer: broad 1st digits, apert: fused digits; crouzon: mild-face hypoplasia, occular proptosis |
|
|
achondroplasia (dwarfism)
-gene? -gene product? -mutation? |
-FGFR3
-fibroblast growth factor receptor 3; restrains chondrocytes -two subs, overactivation - inhib chondrocyte growth |
|
|
achondroplasi
-inheritance? -clinical features? |
-AD w/complete penetrance
-short limbs, frontal bossing, hypoplasia of face, normal intelligence, resp. function compromised, fertility problem |
|
|
Marfan syndrome
-gene? -gene product? -inheritance? |
-FBN I
-fibrillin 1 protein; component of ECM -AD |
|
|
Marfan syndrome
-clinical features? |
-myopia and dislocatin of lens, chest wall deformity, scoliosis, flat feet, hypermobile joints, tall, lanky, long fingers/toes, mitral valve prolapse, dilatation of aorta
|
|
|
Ehlers-Danos: classic type I and II
-gene? -gene product? -inheritance? clinical features? |
-COL5A1 and COL5A2
-collagen type V -AD -skin highly extensible, smooth, velvety; delayed abnormal wound healing, tissue fragility, hypermobility of joints, mitral valve prolapse |
|
|
Ehlers Danos: Hypermobility type III
-gene? -gene product? -inheritance? -clincial features? |
-unknown/TNXB
-unknown/tenascin X -AD -mostly joints |
|
|
Ehlers Danos: vascular type IV
-gene? -gene product? -clincial features? |
-COL3A1
-collagen type III -rupture of organs and major blood vessels |
